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- Title
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.
- Authors
Gross, Oliver; Netzer, Kai-Olaf; Lambrecht, Romy; Seibold, Stefan; Weber, Manfred
- Abstract
Alport syndrome (AS) is a hereditary nephropathy characterized by progressive renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene encoding the alpha 5-chain of type IV collagen have been described, establishing the molecular cause of AS. The goal of the present study was to identify the genotype-phenotype correlations that are helpful in clinical counseling. COL4A5-mutations (n=267) in males were analysed including 23 German Alport families.
- Publication
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2002, Vol 17, Issue 7, p1218
- ISSN
0931-0509
- Publication type
Journal Article
- DOI
10.1093/ndt/17.7.1218